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An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis
Authors:Edoardo Errichiello  Alessia Arossa  Angela Iasci  Roberta Villa  Benedetta Ischia  Maria Angela Pavesi  Tommaso Rizzuti  Maria Francesca Bedeschi  Orsetta Zuffardi
Institution:1. Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy;2. Obstetrics and Gynecology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy;3. Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy;4. Fetal Medicine and Surgery, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy;5. Pediatric Radiology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy;6. Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
Abstract:
Keywords:
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